Incidental Mutation 'R9017:Sds'
ID 686063
Institutional Source Beutler Lab
Gene Symbol Sds
Ensembl Gene ENSMUSG00000029597
Gene Name serine dehydratase
Synonyms SDH
MMRRC Submission 068847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R9017 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120614612-120621997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120618655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 70 (M70L)
Ref Sequence ENSEMBL: ENSMUSP00000064849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031597] [ENSMUST00000066540] [ENSMUST00000111898] [ENSMUST00000201684]
AlphaFold Q8VBT2
Predicted Effect probably benign
Transcript: ENSMUST00000031597
SMART Domains Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Phospholip_B 62 591 2.9e-179 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066540
AA Change: M70L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
AA Change: M70L

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111898
AA Change: M70L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107529
Gene: ENSMUSG00000029597
AA Change: M70L

DomainStartEndE-ValueType
Pfam:PALP 5 101 2.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201684
AA Change: M70L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
AA Change: M70L

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Sds is the serine dehydratase structural gene. Albino region deletions profoundly affect development and expression of some gluconeogenic enzymes, including Sds. In these deletion mice, Sds is expressed normally on the constitutive level, but fails to develop hormone-inducible expression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,553,211 (GRCm39) T629A probably benign Het
Afg3l2 A G 18: 67,542,550 (GRCm39) V632A possibly damaging Het
Ahnak G A 19: 8,987,487 (GRCm39) E2924K probably damaging Het
Ampd1 A G 3: 102,995,786 (GRCm39) Y232C probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Atp8b4 A T 2: 126,275,841 (GRCm39) N130K probably benign Het
Cdh15 T C 8: 123,584,256 (GRCm39) probably null Het
Cep70 T C 9: 99,181,829 (GRCm39) I613T possibly damaging Het
Cfap54 C T 10: 92,651,883 (GRCm39) V3056I probably benign Het
Chrna2 T C 14: 66,386,282 (GRCm39) F143L probably benign Het
Cmya5 C T 13: 93,228,572 (GRCm39) R2172H probably benign Het
Col17a1 T C 19: 47,657,898 (GRCm39) E424G probably benign Het
Crybg1 T C 10: 43,880,477 (GRCm39) E237G probably benign Het
Ctnnd2 G A 15: 30,881,316 (GRCm39) C732Y probably damaging Het
Dcaf12 T C 4: 41,299,411 (GRCm39) N264S probably benign Het
Dennd4c A G 4: 86,743,349 (GRCm39) S1064G probably benign Het
Dsc2 A T 18: 20,176,968 (GRCm39) Y360N probably damaging Het
E2f3 T G 13: 30,097,478 (GRCm39) D295A probably damaging Het
Eef2 T C 10: 81,015,487 (GRCm39) L336P possibly damaging Het
Fanca A G 8: 124,035,307 (GRCm39) S213P possibly damaging Het
Fpgt A T 3: 154,792,903 (GRCm39) S375T probably benign Het
Gad1 G A 2: 70,416,206 (GRCm39) V222I probably benign Het
Gm5930 A T 14: 44,568,858 (GRCm39) Y255N possibly damaging Het
Gpr55 T C 1: 85,868,624 (GRCm39) N319S probably benign Het
Grik2 T A 10: 48,989,555 (GRCm39) I825F possibly damaging Het
Hcn4 T C 9: 58,731,482 (GRCm39) S230P unknown Het
Kansl3 T C 1: 36,393,861 (GRCm39) I222V probably benign Het
Kif20b T C 19: 34,927,203 (GRCm39) S822P probably benign Het
Kremen2 T A 17: 23,964,737 (GRCm39) probably benign Het
Krt71 G T 15: 101,651,100 (GRCm39) R128S possibly damaging Het
Lrp4 A T 2: 91,324,397 (GRCm39) N1244I possibly damaging Het
Lrrc66 T C 5: 73,765,244 (GRCm39) S600G possibly damaging Het
Mrc2 T A 11: 105,216,711 (GRCm39) C167S probably damaging Het
Mrps17 T C 5: 129,793,857 (GRCm39) V17A probably damaging Het
Muc20 A T 16: 32,614,840 (GRCm39) L179Q unknown Het
Or13g1 A T 7: 85,955,957 (GRCm39) Y121* probably null Het
Or13p8 T A 4: 118,583,565 (GRCm39) F40L probably benign Het
Or4c29 G T 2: 88,739,951 (GRCm39) T262K probably damaging Het
Otop2 T C 11: 115,214,431 (GRCm39) F63L probably benign Het
Pde3b C T 7: 114,015,695 (GRCm39) Q304* probably null Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Plekhg4 A G 8: 106,105,332 (GRCm39) E599G possibly damaging Het
Ppargc1a C A 5: 51,630,251 (GRCm39) R622L unknown Het
Ppip5k2 A G 1: 97,655,139 (GRCm39) L879P probably damaging Het
Prepl C T 17: 85,376,366 (GRCm39) V563M possibly damaging Het
Prom1 G T 5: 44,204,870 (GRCm39) D201E probably damaging Het
Psmd1 T A 1: 86,054,231 (GRCm39) D723E probably damaging Het
Sall2 A T 14: 52,550,719 (GRCm39) N825K possibly damaging Het
Sema4c C T 1: 36,592,079 (GRCm39) R256H probably damaging Het
Sik1 T C 17: 32,070,545 (GRCm39) Y100C probably damaging Het
Slc13a5 T A 11: 72,138,588 (GRCm39) I452F probably damaging Het
Slc25a24 A G 3: 109,062,395 (GRCm39) I162V possibly damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tenm3 T A 8: 48,707,668 (GRCm39) N1710I probably damaging Het
Tmem115 T A 9: 107,411,880 (GRCm39) M68K probably benign Het
Tmem132d T C 5: 127,866,936 (GRCm39) I655V probably benign Het
Tmem132d T C 5: 128,346,316 (GRCm39) I69V probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Trim9 A G 12: 70,314,013 (GRCm39) M544T probably benign Het
Ttll3 G A 6: 113,389,850 (GRCm39) R745H probably benign Het
Ttn G T 2: 76,737,931 (GRCm39) L4249I unknown Het
Unc79 G A 12: 103,074,874 (GRCm39) probably null Het
Vmn1r196 T C 13: 22,478,254 (GRCm39) C298R probably benign Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Zfp853 A G 5: 143,274,243 (GRCm39) L474P unknown Het
Other mutations in Sds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Sds APN 5 120,617,272 (GRCm39) nonsense probably null
R2567:Sds UTSW 5 120,619,646 (GRCm39) missense probably damaging 1.00
R5490:Sds UTSW 5 120,621,715 (GRCm39) missense possibly damaging 0.62
R5682:Sds UTSW 5 120,621,784 (GRCm39) missense possibly damaging 0.95
R6888:Sds UTSW 5 120,618,965 (GRCm39) critical splice donor site probably null
R6958:Sds UTSW 5 120,619,537 (GRCm39) missense probably damaging 0.98
R7030:Sds UTSW 5 120,618,890 (GRCm39) missense probably benign
R7036:Sds UTSW 5 120,618,912 (GRCm39) missense possibly damaging 0.77
R7152:Sds UTSW 5 120,619,716 (GRCm39) splice site probably null
R7422:Sds UTSW 5 120,617,254 (GRCm39) missense probably damaging 1.00
R7883:Sds UTSW 5 120,617,278 (GRCm39) missense possibly damaging 0.92
R8094:Sds UTSW 5 120,617,001 (GRCm39) intron probably benign
R8960:Sds UTSW 5 120,621,659 (GRCm39) missense probably damaging 1.00
R9058:Sds UTSW 5 120,618,779 (GRCm39) missense possibly damaging 0.58
R9218:Sds UTSW 5 120,621,677 (GRCm39) missense probably damaging 1.00
R9519:Sds UTSW 5 120,619,610 (GRCm39) missense probably damaging 1.00
R9540:Sds UTSW 5 120,618,927 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- AGGCACTGTTTCTCTCTGGG -3'
(R):5'- CCTCATCCAGCATCTGCAAG -3'

Sequencing Primer
(F):5'- GTTTCTCTCTGGGCCCCGG -3'
(R):5'- CTGAGATGATGAGGATCTCCATC -3'
Posted On 2021-10-11